D. Pareyson

D. Pareyson, E. Tolosano, I. Kurth, 2017, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

“La toccatina”: polyglottal aphasia in Pirandello

D. Pareyson, A. Sghirlanzoni, 2005, The Italian Journal of Neurological Sciences.

Responsiveness of gait parameters to changes in locomotor impairments induced by CMT disease: A 12 months follow-up study

M. Ferrarin, M. Rabuffetti, D. Pareyson, 2015 .

Neuropsychological features of adult form of Alexander disease

D. Pareyson, F. Taroni, D. D. Di Bella, 2019, Journal of the Neurological Sciences.

Leukoencephalopathy With Predominant Infratentorial Involvement Caused by a Novel ABCD1 Mutation

D. Pareyson, G. Marotta, E. Salsano, 2019, The neurologist.

Optical coherence tomography in adult adrenoleukodystrophy: a cross-sectional and longitudinal study

C. Gellera, D. Pareyson, E. Salsano, 2020, Neurological Sciences.

Relative Frequencies of CAG Expansions in Spinocerebellar Ataxia and Dentatorubropallidoluysian Atrophy in 116 Italian Families

G. Caruso, G. Coppola, S. di Donato, 2000, European Neurology.

Peripheral nerve involvement in Churg-Strauss syndrome

V. Scaioli, D. Pareyson, M. Corbo, 1992, Journal of Neurology.

Natural history of Charcot‐Marie‐Tooth disease during childhood

R. Finkel, F. Muntoni, D. Herrmann, 2017, Annals of neurology.

Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A

M. Mcdermott, D. Herrmann, S. Scherer, 2022, Frontiers in Neurology.

Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS

R. Finkel, F. Muntoni, D. Herrmann, 2020, Annals of clinical and translational neurology.

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

R. Finkel, S. Züchner, F. Muntoni, 2020, Neurology.

Neurofilament light, biomarkers, and Charcot-Marie-Tooth disease

D. Pareyson, M. Shy, 2018, Neurology.

New developments in Charcot–Marie–Tooth neuropathy and related diseases

D. Pareyson, C. Pisciotta, P. Saveri, 2017, Current opinion in neurology.

Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy

J. Finsterer, A. Ludolph, D. Pareyson, 2016, Journal of Molecular Neuroscience.

136th ENMC International Workshop: Charcot–Marie–Tooth Disease Type 1A (CMT1A)8–10 April 2005, Naarden, The Netherlands

D. Pareyson, M. Reilly, P. Jonghe, 2006, Neuromuscular Disorders.

Reliability of the CMT neuropathy score (second version) in Charcot‐Marie‐Tooth disease

M. Mcdermott, D. Herrmann, S. Scherer, 2011, Journal of the peripheral nervous system : JPNS.

168th ENMC International Workshop: Outcome measures and clinical trials in Charcot–Marie–Tooth disease (CMT)

F. Muntoni, D. Pareyson, M. Shy, 2010, Neuromuscular Disorders.

Lack of benefit of acetyl-dl-leucine in patients with multiple system atrophy of the cerebellar type

D. Pareyson, G. Scigliuolo, E. Salsano, 2017, Journal of the Neurological Sciences.

A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)

A. Mégarbané, L. Santoro, Y. Parman, 2019, Annals of neurology.

Charcot‐Marie‐Tooth disease in Africa

S. Züchner, D. Pareyson, 2022, Journal of the peripheral nervous system : JPNS.

Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease

V. Scaioli, D. Pareyson, M. Laurá, 2007, NeuroMolecular Medicine.

Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies

D. Pareyson, 2004, Neurological Sciences.

Influence of comorbidities on the phenotype of patients affected by Charcot–Marie–Tooth neuropathy type 1A

L. Santoro, E. Bellone, D. Pareyson, 2013, Neuromuscular Disorders.

Guidelines for the diagnosis of Charcot-Marie-Tooth disease and related neuropathies

D. Pareyson, 1999, The Italian Journal of Neurological Sciences.

A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.

J. Lupski, S. di Donato, M. Pandolfo, 1995, American journal of human genetics.

Excellent response to steroid treatment in anti-GAD cerebellar ataxia

D. Pareyson, G. Lauria, E. Bazzigaluppi, 2003, The Lancet Neurology.

Myelin protein zero gene dose dependent axonal ion-channel dysfunction in a family with Charcot-Marie-Tooth disease

C. Krarup, D. Pareyson, M. Moldovan, 2020, Clinical Neurophysiology.

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

C. Gellera, A. Erbetta, D. Pareyson, 2013, Orphanet Journal of Rare Diseases.

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

R. Finkel, F. Muntoni, D. Herrmann, 2015, Brain : a journal of neurology.

Hereditary neuropathy with liability to pressure palsies

D. Pareyson, F. Fatehi, S. Attarian, 2019, Journal of Neurology.

Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy

S. Botti, V. Scaioli, D. Pareyson, 1998, Muscle & nerve.

Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus

D. Pareyson, C. Gemelli, M. Grandis, 2020, Orphanet Journal of Rare Diseases.

Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy

M. de Curtis, A. Silvani, P. Tiraboschi, 2021, Neurological Sciences.

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

E. Lamantea, D. Pareyson, D. Ghezzi, 2015, Neurology.

Spinal radiological findings in nine patients with spontaneous intracranial hypotension

A. Erbetta, L. D'Incerti, D. Pareyson, 2002, Neuroradiology.

Adult-onset leukodystrophies from respiratory chain disorders: do they exist?

M. Zeviani, E. Lamantea, G. Uziel, 2013, Journal of Neurology.

Mitochondrial dynamics and inherited peripheral nerve diseases

D. Pareyson, P. Saveri, A. Sagnelli, 2015, Neuroscience Letters.

A I .5-Mb Deletion in 17p I 1.2-p 1 2 Is Frequently Observed in Italian Families with Hereditary Neuropathy with Liability to Pressure Palsies

J. Lupski, M. Pandolfo, D. Pareyson, 2007 .

Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II

K. Claeys, T. Pieber, V. Scaioli, 2006, Neurology.

Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies

D. Pareyson, F. Taroni, 1996, Current opinion in neurology.

Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion

V. Scaioli, D. Pareyson, A. Solari, 1996, Neurology.

Gene dosage effects in hereditary peripheral neuropathy

J. Gabriel, A. Steck, D. Pareyson, 1997, Neurology.

17p11.2 duplication is a common finding in sporadic cases of Charcot-Marie-Tooth type 1.

E. Bellone, D. Pareyson, A. Schenone, 1994, European neurology.

Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families.

E. Bellone, D. Pareyson, A. Schenone, 1992, Journal of medical genetics.

hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers

D. Pareyson, A. Schenone, M. Grandis, 2020, Brain sciences.

Updated review of therapeutic strategies for Charcot-Marie-Tooth disease and related neuropathies

D. Pareyson, C. Pisciotta, P. Saveri, 2021, Expert review of neurotherapeutics.

Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations

N. Bresolin, G. Comi, S. Corti, 2021, Annals of clinical and translational neurology.

An update on clinical trials in Charcot-Marie-Tooth Disease

D. Pareyson, G. Piscosquito, 2014 .

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

B. Schlotter-Weigel, L. Schöls, T. Pieber, 2007, Journal of the Neurological Sciences.

Charcot-Marie-Tooth disease type 2 and P0 gene mutations.

D. Pareyson, M. Mora, F. Taroni, 1999, Neurology.

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients

B. Castellotti, C. Gellera, N. Nardocci, 2011, neurogenetics.

Randomised controlled trial of methotrexate for chronic inflammatory demyelinating polyradiculoneuropathy (RMC trial): a pilot, multicentre study

M. Lucchetta, D. Pareyson, A. Schenone, 2009, The Lancet Neurology.

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

A. Franke, R. Płoski, Michael A. Gonzalez, 2014, American journal of human genetics.

Hereditary predominantly motor neuropathies

D. Pareyson, E. Salsano, C. Marchesi, 2009, Current opinion in neurology.

Charcot–Marie–Tooth disease type 1A: is ascorbic acid effective?

D. Pareyson, A. Solari, 2009, The Lancet Neurology.

CSF and Blood Levels of GFAP in Alexander Disease

F. Eichler, A. Vanderver, R. Schiffmann, 2015, eNeuro.

Validation of the Italian version of the pediatric CMT quality of life outcome measure

D. Pareyson, A. Ardissone, E. Pagliano, 2022, Journal of the peripheral nervous system : JPNS.

Validation of the Italian version of the Charcot-Marie-Tooth Health Index (CMT-HI).

D. Herrmann, D. Pareyson, R. Zuccarino, 2020, Journal of the peripheral nervous system : JPNS.

Validation of the Italian version of the Charcot‐Marie‐Tooth disease Pediatric Scale

D. Pareyson, A. Schenone, R. Zuccarino, 2020, Journal of the peripheral nervous system : JPNS.

Chronic inflammatory demyelinating polyradiculoneuropathy: long-term course and treatment of 60 patients

D. Pareyson, A. Solari, C. Mariotti, 2000, Neurological Sciences.

Peripheral neuropathy in mitochondrial disorders

M. Zeviani, D. Pareyson, E. Salsano, 2013, The Lancet Neurology.

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A

D. Pareyson, F. Taroni, M. Bugiani, 2009, Neuromuscular Disorders.

Parenchymatous neurosyphilis

A. Erbetta, D. Pareyson, G. Lauria, 2001, Neurological Sciences.

The influence of somatosensory and muscular deficits on postural stabilization: Insights from an instrumented analysis of subjects affected by different types of Charcot–Marie–Tooth disease

M. Ferrarin, M. Rabuffetti, L. Padua, 2015, Neuromuscular Disorders.

Homozygous hypertrophic hereditary motor and sensory neuropathies

D. Riva, G. Cavaletti, E. Bellone, 1994, The Italian Journal of Neurological Sciences.

Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation

S. Botti, D. Pareyson, G. Lauria, 2000, Neurology.

A novel NDRG1 mutation in a non‐Romani patient with CMT4D/HMSN‐Lom

D. Pareyson, F. Taroni, S. Magri, 2017, Journal of the peripheral nervous system : JPNS.

Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature

C. Gellera, D. Pareyson, C. Mariotti, 2009, Journal of Neurology.

Chronic cryptogenic sensory polyneuropathy.

D. Pareyson, G. Lauria, A. Sghirlanzoni, 2000, Archives of neurology.

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

M. Zeviani, R. Schüle, L. Schöls, 2020, Annals of neurology.

Childhood-onset multifocal motor neuropathy with conduction blocks

D. Pareyson, M. Bugiani, I. Moroni, 2006, Neurology.

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

O. Mäkitie, D. Pareyson, I. Hovatta, 2012, American journal of human genetics.

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

Jun Yu Li, R. Finkel, S. Züchner, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy

L. Magliano, D. Pareyson, C. Gemelli, 2021, Orphanet Journal of Rare Diseases.

Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype

A. Geroldi, D. Pareyson, A. Schenone, 2019, Journal of Neurology.

Prevalence and orthopedic management of foot and ankle deformities in Charcot–Marie–Tooth disease

R. Lewis, D. Herrmann, S. Scherer, 2017, Muscle & nerve.

221st ENMC International Workshop: Foot Surgery in Charcot-Marie-Tooth disease. 10–12 June 2016, Naarden, The Netherlands

J. Louwerens, D. Pareyson, M. Shy, 2017, Neuromuscular Disorders.

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)

R. Lewis, R. Horvath, D. Herrmann, 2017, Neurology.

Novel outcome measures for Charcot−Marie−Tooth disease: validation and reliability of the 6‐min walk test and StepWatch™ Activity Monitor and identification of the walking features related to higher quality of life

A. Quattrone, L. Padua, D. Pareyson, 2016, European journal of neurology.

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.

R. Finkel, F. Muntoni, D. Herrmann, 2016, JAMA neurology.

PSYCHOMETRIC EVALUATION OF CHARCOT-MARIE-TOOTH DISEASE (CMT) NEUROPATHY SCORE (CMTNS) VERSION 2.0 USING RASCH ANALYSIS

D. Pareyson, M. Shy, M. Reilly, 2013 .

The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome

F. Tagliavini, D. Pareyson, C. Marelli, 2008, Movement disorders : official journal of the Movement Disorder Society.

Are novel outcome measures for Charcot–Marie–Tooth disease sensitive to change? The 6-minute walk test and StepWatch™ Activity Monitor in a 12-month longitudinal study

L. Santoro, A. Quattrone, L. Padua, 2019, Neuromuscular Disorders.

A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b

D. Pareyson, R. Cantello, F. Taroni, 2016, Neuromuscular Disorders.

Inherited neuropathies: an update

D. Pareyson, A. Sagnelli, G. Piscosquito, 2013, Journal of Neurology.

Can MR Imaging Diagnose Adult-Onset Alexander Disease?

L. Minati, D. Pareyson, L. Chiapparini, 2008, American Journal of Neuroradiology.

Correlation between clinical/neurophysiological findings and quality of life in Charcot‐Marie‐Tooth type 1A

P. Tonali, A. Quattrone, L. Padua, 2008, Journal of the peripheral nervous system : JPNS.

Hereditary transthyretin amyloidosis overview

D. Pareyson, P. Mandich, A. Mazzeo, 2020, Neurological Sciences.

F response and somatosensory and brainstem auditory evoked potential studies in HMSN type I and II.

G. Avanzini, V. Scaioli, D. Pareyson, 1992, Journal of neurology, neurosurgery, and psychiatry.

Four novel cases of periaxin-related neuropathy and review of the literature

V. Scaioli, D. Pareyson, G. Lauria, 2010, Neurology.

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations

H. Houlden, R. Sandford, D. Pareyson, 2011, Neurology.

Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene

C. Gellera, D. Pareyson, F. Taroni, 2011, Neuromuscular Disorders.

A novel founder mutation in the MFN2 gene associated with variable Charcot–Marie–Tooth type 2 phenotype in two families from Southern Italy

A. Quattrone, D. Pareyson, M. Muglia, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

A novel founder mutation in the MFN 2 gene associated with variable Charcot –

D. Pareyson, F. Taroni, 2007 .

Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy

Y. Parman, V. Haucke, D. Pareyson, 2021, Proceedings of the National Academy of Sciences.

Combined central and peripheral acute demyelination

M. Gemma, D. Pareyson, M. Savoiardo, 2006, The Italian Journal of Neurological Sciences.

ATTRv amyloidosis Italian Registry: clinical and epidemiological data

F. Salvi, L. Santoro, C. Rapezzi, 2020, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

D. Pareyson, F. Taroni, S. Magri, 2022, European journal of neurology.

Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease

R. Finkel, F. Muntoni, S. Garnett, 2021, Neurology.

Late-onset sporadic ataxia, pontine lesion, and retroperitoneal fibrosis: a case of Erdheim-Chester disease

G. Finocchiaro, B. Pollo, D. Pareyson, 2008, Neurological Sciences.

Mitochondrial disorders of the retinal ganglion cells and the optic nerve.

J. Burgunder, J. Finsterer, M. Mancuso, 2017, Mitochondrion.

Vitamin C and Charcot–Marie–Tooth 1A: Pharmacokinetic considerations

D. Pareyson, A. Solari, M. Reilly, 2013, PharmaNutrition.

Clinical neurogenetics: recent advances

D. Pareyson, E. Salsano, 2012, Journal of Neurology.

Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.

K. Claeys, D. Pareyson, T. Mongini, 2022, Journal of neuromuscular diseases.

Slowly progressive sensory hemisyndrome: unusual presentation of paraneoplastic sensory neuronopathy

V. Scaioli, D. Pareyson, G. Lauria, 2010, Journal of the peripheral nervous system : JPNS.

Charcot-Marie-Tooth and pain: correlations with neurophysiological, clinical, and disability findings

A. Quattrone, L. Padua, D. Pareyson, 2008, Neurological Sciences.

Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry

L. Santoro, A. Quattrone, L. Padua, 2022, Journal of Neurology.

Outcome measures for Charcot‐Marie‐Tooth disease: clinical and neurofunctional assessment in children

M. Ferrarin, D. Pareyson, G. Baranello, 2011, Journal of the peripheral nervous system.

Acoustic nerve in peripheral neuropathy: a BAEP study. Brainstem Auditory Evoked Potentials.

V. Scaioli, D. Pareyson, E. Berta, 1995, Electromyography and clinical neurophysiology.

Mutational mechanisms in MFN2‐related neuropathy: compound heterozygosity for recessive and semidominant mutations

D. Pareyson, F. Taroni, S. Magri, 2015, Journal of the peripheral nervous system : JPNS.

CMT-COVID Survey

D. Pareyson, A. Schenone, V. Prada, 2022, Clinical Medical Case Reports and Reviews.

Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim–Chester disease

B. Pollo, G. Cavalli, G. de Luca, 2018, Journal of Neurology.

Neurologic symptoms after epidural anaesthesia. Report of three cases

M. Gemma, D. Pareyson, M. Grisoli, 1994, Acta anaesthesiologica Scandinavica.

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.

Katherine R. Smith, D. Dickson, S. Berkovic, 2012, American journal of human genetics.

Immunological Reactivity against Neuronal and Non-Neuronal Antigens in Sporadic Adult-Onset Cerebellar Ataxia

S. di Donato, D. Pareyson, M. Colecchia, 2009, European Neurology.

Diagnosis of hereditary neuropathies in adult patients

D. Pareyson, 2003, Journal of Neurology.

Polyneuropathy in POEMS syndrome: role of angiogenic factors in the pathogenesis.

G. Comi, D. Pareyson, C. Briani, 2005, Brain : a journal of neurology.

Efficacy of intranasal administration of neostigmine in myasthenic patients

D. Pareyson, F. Cornelio, V. Cosi, 1992, Journal of Neurology.

Pachymeningeal involvement in POEMS syndrome: MRI and histopathological study

A. Angelini, G. Thiene, L. Battistin, 2011, Journal of Neurology, Neurosurgery & Psychiatry.

Mitochondrial dementia: A sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation

M. Zeviani, E. Lamantea, A. Giovagnoli, 2011, Journal of the Neurological Sciences.

Neurogenic muscle hypertrophy

V. Scaioli, D. Pareyson, L. Morandi, 1989, Journal of Neurology.

Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation

S. Berkovic, S. Franceschetti, F. Tagliavini, 2014, Epilepsia.

Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients

S. Corti, C. Gellera, D. Pareyson, 2021, International journal of molecular sciences.

Transcriptional role of androgen receptor in the expression of long non-coding RNA Sox2OT in neurogenesis

Davide Pareyson, Jenny Sassone, Michela Taiana, 2017, PloS one.

Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

Davide Pareyson, D. Pareyson, C. Marchesi, 2009, The Lancet Neurology.

A Novel Polymorphic AP‐1 Binding Element of the GFAP Promoter is Associated with Different Allelic Transcriptional Activities

R. Ravazzolo, D. Pareyson, S. Regis, 2010, Annals of human genetics.

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

B. Castellotti, C. Gellera, G. Uziel, 2012, Orphanet Journal of Rare Diseases.

Outcome measures in the clinical evaluation of ambulatory Charcot-Marie-Tooth 1A subjects.

N. Smania, L. Padua, D. Pareyson, 2019, European journal of physical and rehabilitation medicine.

Instrumented Balance and Gait Assessment in Patients with Charcot-Marie-Tooth Peripheral Neuropathy

P. Tropea, D. Pareyson, A. Caronni, 2018, Converging Clinical and Engineering Research on Neurorehabilitation III.

Ascorbic acid for the treatment of Charcot-Marie-Tooth disease.

D. Pareyson, M. Reilly, P. de Jonghe, 2015, The Cochrane database of systematic reviews.

Natural history and treatment of peripheral inherited neuropathies.

D. Pareyson, C. Marchesi, 2009, Advances in experimental medicine and biology.

A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol [EudraCT no.: 2006-000032-27].

L. Santoro, A. Quattrone, L. Padua, 2006, Pharmacological research.

Pregnancy in Charcot-Marie-Tooth disease

L. Santoro, F. Parazzini, A. Quattrone, 2020, Neurology.

Laryngeal and phrenic nerve involvement in a patient with hereditary neuropathy with liability to pressure palsies (HNPP)

D. Pareyson, E. Alfonsi, A. Moglia, 2016, Neuromuscular Disorders.

Epidural Anesthesia and Spinal Arachnoiditis

D. Pareyson, M. Bracchi, R. Marazzi, 1989 .

Epidural anaesthesia and spinal arachnoiditis

D. Pareyson, M. Bracchi, R. Marazzi, 1989, Anaesthesia.

Imaging and outcome in severe complications of lumbar epidural anaesthesia: report of 16 cases

D. Pareyson, L. Chiapparini, M. Savoiardo, 2000, Neuroradiology.

Spinal arteriovenous fistula

D. Pareyson, A. Boiardi, A. Sghirlanzoni, 1989, Anaesthesia.

Polyradiculopathy in the course of superficial siderosis of the CNS

D. Pareyson, M. Grisoli, M. Savoiardo, 2001, Journal of Neurology.

Neurologic complications of epidural anesthesia

D. Pareyson, A. Sghirlanzoni, 2005, The Italian Journal of Neurological Sciences.

Chloroquine myopathy and myasthenia‐like syndrome

D. Pareyson, R. Mantegazza, F. Cornelio, 1988, Muscle and Nerve.

Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy

M. Devoto, D. Lazarević, S. Scherer, 2022, European journal of neurology.

Variation in SIPA1L2 is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A

F. Baas, S. Züchner, G. Beecham, 2019, Annals of neurology.

A multicentre follow-up study of 1152 patients with myasthenia gravis in Italy

E. Beghi, P. Tonali, C. Angelini, 1990, Journal of Neurology.

Anti AChR antibody: Relevance to diagnosis and clinical aspects of myasthenia gravis

D. Pareyson, R. Mantegazza, F. Cornelio, 1988, The Italian Journal of Neurological Sciences.

Asymptomatic adrenoleukodystrophy in elderly males

C. Gellera, D. Pareyson, E. Salsano, 2020, Journal of Neurology.

Brain fluorodeoxyglucose PET in adrenoleukodystrophy

G. Uziel, A. Giovagnoli, D. Pareyson, 2014, Neurology.

Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.

D. Pareyson, A. Salmaggi, C. Mariotti, 2008, Brain : a journal of neurology.

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

B. Castellotti, C. Gellera, D. Pareyson, 2014, Brain : a journal of neurology.

Nerve conduction velocity in CMT1A: what else can we tell?

L. Santoro, L. Padua, D. Pareyson, 2016, European journal of neurology.

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients

T. Beißbarth, B. Schlotter-Weigel, A. Leha, 2014, Neuromuscular Disorders.

Vertical supranuclear gaze palsy in Niemann-Pick type C disease

D. Zee, D. Pareyson, E. Salsano, 2012, Neurological Sciences.

Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives

D. Pareyson, C. Pisciotta, P. Saveri, 2021, Brain sciences.

MR imaging and proton MR spectroscopy in adult Krabbe disease.

A. Bizzi, G. Finocchiaro, D. Pareyson, 2000, AJNR. American journal of neuroradiology.

Natural history of Charcot–Marie-Tooth 2: 2-year follow-up of muscle strength, walking ability and quality of life

P. Tonali, L. Padua, D. Pareyson, 2010, Neurological Sciences.

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT

H. Houlden, D. Pareyson, J. Polke, 2017, Neurology.

Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy

J. Finsterer, A. Ludolph, D. Pareyson, 2016, Journal of Molecular Neuroscience.

Electromyographic and biomechanical analysis of step negotiation in Charcot Marie Tooth subjects whose level walk is not impaired.

M. Ferrarin, M. Rabuffetti, L. Padua, 2018, Gait & posture.

Responsiveness of gait analysis parameters in a cohort of 71 CMT subjects

Maurizio Ferrarin, Davide Pareyson, Isabella Moroni, 2017, Neuromuscular Disorders.

A I.5-MbDeletion in17p I 1.2-p 12IsFrequently Observedin Italian Families withHereditary Neuropathy withLiability to Pressure Palsies

M. Pandolfo, D. Pareyson, S. Didonato, 1995 .

Recurrent familial neuropathy due to liability to pressure palsies

V. Scaioli, D. Pareyson, G. Chiodelli, 1988, The Italian Journal of Neurological Sciences.

Sensory neuron diseases

D. Pareyson, G. Lauria, A. Sghirlanzoni, 2005, The Lancet Neurology.

Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation

V. Tiranti, D. Pareyson, L. Chiapparini, 2021, neurogenetics.

Clinical and magnetic resonance imaging findings in chronic sensory ganglionopathies

D. Pareyson, G. Lauria, M. Grisoli, 2000, Annals of neurology.

Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy

D. Pareyson, F. Taroni, D. D. Di Bella, 2017, Journal of the peripheral nervous system : JPNS.

Balance impairment in pediatric charcot–marie–tooth disease

R. Finkel, F. Muntoni, D. Herrmann, 2019, Muscle & nerve.

Pendular nystagmus in progressive ataxia and palatal tremor

D. Pareyson, M. Grisoli, C. Mariotti, 2011, Journal of Neurology.

Epidermal nerve fiber density in sensory ganglionopathies: Clinical and neurophysiologic correlations

D. Pareyson, G. Lauria, R. Lombardi, 2001, Muscle & nerve.

Neurophysiological Diagnosis of Acquired Sensory Ganglionopathies

D. Pareyson, G. Lauria, A. Sghirlanzoni, 2003, European Neurology.

Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features

F. Tagliavini, A. Erbetta, M. Salmona, 2014, Neurobiology of Aging.

Expanding sialidosis spectrum by genome-wide screening

F. Zara, C. Gellera, F. Panzica, 2014, Neurology.

Intravenous immunoglobulin versus intravenous methylprednisolone for chronic inflammatory demyelinating polyradiculoneuropathy: a randomised controlled trial

Stefano Tamburin, E. Beghi, L. Santoro, 2012, The Lancet Neurology.

Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann–Sträussler–Scheinker disease Pro102Leu

F. Tagliavini, V. Scaioli, D. Pareyson, 2011, Journal of the Neurological Sciences.

Novel loss‐of‐function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia

D. Pareyson, F. Boaretto, C. Briani, 2015, Muscle & nerve.

A new mutation in GJC2 associated with subclinical leukodystrophy

Sarah Wong, E. Lamantea, V. Scaioli, 2014, Journal of Neurology.

Different nerve ultrasound patterns in charcot‐marie‐tooth types and hereditary neuropathy with liability to pressure palsies

L. Padua, M. Lucchetta, D. Pareyson, 2018, Muscle & nerve.

Rapid progression of late onset axonal Charcot–Marie–Tooth disease associated with a novel MPZ mutation in the extracellular domain

V. Scaioli, D. Pareyson, F. Taroni, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease

R. Ravazzolo, G. Uziel, D. Pareyson, 2007, Clinical genetics.

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Dana M. Bis-Brewer, R. Finkel, F. Muntoni, 2020, Nature Genetics.

An essential role of MAG in mediating axon–myelin attachment in Charcot–Marie–Tooth 1A disease

A. Steck, E. Peles, D. Pareyson, 2013, Neurobiology of Disease.

IgM deposits on skin nerves in anti–myelin‐associated glycoprotein neuropathy

P. Fuhr, A. Steck, D. Pareyson, 2005, Annals of neurology.

Frequency and time to relapse after discontinuing 6-month therapy with IVIg or pulsed methylprednisolone in CIDP

Stefano Tamburin, E. Beghi, L. Santoro, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre study

P. Tonali, L. Padua, D. Pareyson, 2006, Neurological Sciences.

Hypomyelinating leukodystrophies in adults: Clinical and genetic features

C. Gellera, D. Pareyson, F. Taroni, 2020, European journal of neurology.

Pendular nystagmus in hypomyelinating leukodystrophy

L. D'Incerti, D. Pareyson, F. Taroni, 2013, Journal of Clinical Neuroscience.

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

A. Bizzi, M. Zeviani, E. Lamantea, 2009, Brain : a journal of neurology.

Hereditary spastic paraplegia is a novel phenotype for GJA 12 / GJC 2 mutations

A. Bizzi, M. Zeviani, E. Lamantea, 2009 .

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

R. Finkel, S. Züchner, F. Muntoni, 2020, Brain : a journal of neurology.

PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease

C. Verfaillie, R. Horvath, D. Pareyson, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease.

D. Pareyson, M. Shy, M. Mora, 1999, Annals of the New York Academy of Sciences.

Hereditary motor and sensory neuropathy type I and type II

V. Scaioli, D. Pareyson, R. Marazzi, 1990, The Italian Journal of Neurological Sciences.

Frequency, entity and determinants of fatigue in Charcot–Marie–Tooth disease

L. Santoro, A. Quattrone, L. Padua, 2022, European journal of neurology.

Reliable virtual clinical assessment in spino-bulbar muscular atrophy (SBMA)

F. De Giorgi, D. Pareyson, I. Tramacere, 2022, Journal of Neurology, Neurosurgery, and Psychiatry.

Validation of the Italian version of the SBMA Functional Rating Scale as outcome measure

D. Pareyson, E. Pegoraro, L. Bello, 2016, Neurological Sciences.

Responsiveness of clinical outcome measures in Charcot−Marie−Tooth disease

D. Radice, A. Quattrone, L. Padua, 2015, European journal of neurology.

Validation of the Charcot–Marie–Tooth disease pediatric scale as an outcome measure of disability

R. Finkel, M. Lek, F. Muntoni, 2012, Annals of neurology.

Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

D. Radice, R. Hughes, L. Santoro, 2011, The Lancet Neurology.

Clinical Trials in Spinal and Bulbar Muscular Atrophy—Past, Present, and Future

A. Ludolph, D. Pareyson, A. Rosenbohm, 2015, Journal of Molecular Neuroscience.

Postural stabilization and balance assessment in Charcot–Marie–Tooth 1A subjects

M. Ferrarin, M. Rabuffetti, L. Padua, 2014, Gait & posture.

HMSN III phenotype due to homozygous expression of a dominant HMSN II gene

E. Bellone, D. Pareyson, P. Mandich, 1992, Neurology.

Axonal swellings predict the degeneration of epidermal nerve fibers in painful neuropathies

D. Pareyson, G. Lauria, M. Borgna, 2003, Neurology.

Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins?

A. Erbetta, D. Pareyson, G. Lauria, 2003, Neurology.

Neurofascin-155 as a putative antigen in combined central and peripheral demyelination

E. Marchioni, D. Pareyson, J. Devaux, 2016, Neurology: Neuroimmunology & Neuroinflammation.

Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease

R. Ravazzolo, D. Pareyson, R. Biancheri, 2008, European Journal of Human Genetics.

Human Adipose-Derived Mesenchymal Stem Cells as a New Model of Spinal and Bulbar Muscular Atrophy

E. Parati, C. Gellera, D. Pareyson, 2014, PloS one.

Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings

Monica Consonni, D. Pareyson, L. Chiapparini, 2016, Journal of Neurology.

Adult polyglucosan body disease in a patient originally diagnosed with Fabry’s disease

D. Pareyson, M. Mora, A. Mazzeo, 2014, Neuromuscular Disorders.

Poems syndrome: role of two angiogenic factors, VEGF and EPO.

D. Pareyson, C. Briani, A. Quattrini, 2004 .

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation

P. Fossa, E. Cichero, D. Pareyson, 2020, Cells.

PMP22 frameshift mutation and hereditary neuropathy with liability to pressure palsies

S. Botti, D. Pareyson, F. Taroni, 1997, Neurology.

Changes of gait pattern in children with Charcot-Marie-Tooth disease type 1A: a 18 months follow-up study

Maurizio Ferrarin, Davide Pareyson, Isabella Moroni, 2013, Journal of NeuroEngineering and Rehabilitation.

Reliability of clinical outcome measures in Charcot-Marie-Tooth disease

D. Radice, D. Pareyson, A. Solari, 2008, Neuromuscular Disorders.

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPAgene in Italian families

D. Gambi, B. Castellotti, C. Gellera, 2004, Neurological Sciences.

Partial laminin alpha2 chain deficiency in a patient with myopathy resembling inclusion body myositis.

L Farina, D. Pareyson, L. Morandi, 2000, Annals of neurology.

Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes

Davide Pareyson, Caterina Mariotti, Antonella Antonelli, 1999, Journal of Neurology.

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot‐Marie‐Tooth disease (CMT4)

Davide Pareyson, Isabella Moroni, Franco Taroni, 2016, Journal of the peripheral nervous system : JPNS.

Expression of capsaicin receptor immunoreactivity in human peripheral nervous system and in painful neuropathies

D. Pareyson, G. Lauria, M. Manconi, 2006, Journal of the peripheral nervous system : JPNS.

Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation

N. Bresolin, G. Tedeschi, D. Pareyson, 2014, Neurology.

Discovering the Italian phenotype of cerebral amyloid angiopathy (CAA): the SENECA project

E. Parati, P. Vitali, L. Pantoni, 2020, Neurological Sciences.

POEMS syndrome: relapse after successful autologous peripheral blood stem cell transplantation

T. Barbui, D. Pareyson, L. Chiapparini, 2007, Neuromuscular Disorders.

Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease

V. Scaioli, V. Scaioli, D. Pareyson, 2006 .

Complex Ataxia‐Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia

C. Gellera, D. Pareyson, M. Grisoli, 2023, Movement disorders : official journal of the Movement Disorder Society.

Psychometrics evaluation of Charcot‐Marie‐Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis

D. Pareyson, C. Bacon, M. Shy, 2014, Journal of the peripheral nervous system : JPNS.

Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints

R. Finkel, S. Züchner, D. Herrmann, 2023, Annals of neurology.

Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study

Jun Yu Li, R. Finkel, F. Muntoni, 2022, Annals of neurology.

Natural history of CMT1A including QoL: A 2-year prospective study

A. Quattrone, L. Padua, D. Pareyson, 2008, Neuromuscular Disorders.

Affective disorders and multiple sclerosis: a controlled study on 65 Italian patients

D. Pareyson, A. Solari, M. Eoli, 1998, The Italian Journal of Neurological Sciences.

Cisplatin neuropathy in brain tumor chemotherapy

A. Silvani, V. Scaioli, D. Pareyson, 1992, The Italian Journal of Neurological Sciences.

Clinical Trials in Spinal and Bulbar Muscular Atrophy—Past, Present, and Future

A. Ludolph, D. Pareyson, A. Rosenbohm, 2016, Journal of Molecular Neuroscience.

Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families

R. Marconi, B. Castellotti, C. Gellera, 2000, Neuromuscular Disorders.

Coexistence of Charcot‐Marie‐Tooth disease type 1A and anti‐MAG neuropathy

D. Pareyson, E. Salsano, M. Morbin, 2013, Journal of the peripheral nervous system : JPNS.

The effects of wallerian degeneration of the optic radiations demonstrated by MRI

L. D'Incerti, D. Pareyson, M. Grisoli, 2004, Neuroradiology.

Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy

B. Castellotti, C. Gellera, D. Pareyson, 2019, Neurology.

Relationship between clinical examination, Quality of Life, disability and depression in CMT patients: Italian Multicenter study

P. Tonali, L. Padua, D. Pareyson, 2008, Neurological Sciences.

Partial laminin α2 chain deficiency in a patient with myopathy resembling inclusion body myositis

Davide Pareyson, Marina Mora, D. Pareyson, 2000 .

Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients

D. Corrado, M. Pennuto, M. Ermani, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

K. Bhatia, A. Lees, N. Wood, 2020, Neurology: Genetics.

Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy

D. Pareyson, G. Lauria, F. Taroni, 2012, Journal of the peripheral nervous system : JPNS.

A novel founder mutation in the MFN2 gene associated with variable Charcot–Marie–Tooth type 2 phenotype in two families from Southern Italy

A. Quattrone, D. Pareyson, M. Muglia, 2009, BMJ Case Reports.

Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies: From Gene Function to Associated Phenotypes.

D. Pareyson, P. Saveri, G. Piscosquito, 2014, Current molecular medicine.

A novel mutation in the mitochondrial tRNAVal gene associated with a complex neurological presentation

V. Tiranti, M. Zeviani, P. Gasparini, 1998, Annals of neurology.

Gait pattern classification in children with Charcot-Marie-Tooth disease type 1A.

M Rabuffetti, M Ferrarin, I Moroni, 2012, Gait & posture.

Reliability of the Charcot-Marie-Tooth functional outcome measure.

D. Herrmann, S. Scherer, D. Pareyson, 2020, Journal of the peripheral nervous system : JPNS.

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

K. Refshauge, D. Herrmann, D. Pareyson, 2018, Brain : a journal of neurology.

Authors' response to Rahman and Fontes

D. Pareyson, A. Solari, M. Reilly, 2013 .

Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot‐Marie‐Tooth disease

R. Finkel, F. Muntoni, D. Herrmann, 2013, Journal of the peripheral nervous system : JPNS.

The POEMS syndrome: Report of six cases

D. Pareyson, A. Schenone, P. Confalonieri, 1994, The Italian Journal of Neurological Sciences.

Gene therapy and other novel treatment approaches for Charcot-Marie-Tooth disease

D. Pareyson, C. Pisciotta, 2023, Neuromuscular Disorders.

Normal expression of myelin protein zero with frame‐shift mutation correlates with mild phenotype

A. Steck, D. Pareyson, N. Schaeren-Wiemers, 2006, Journal of the peripheral nervous system : JPNS.

Heterozygous Null Mutation in the P0 Gene Associated with Mild Charcot‐Marie‐Tooth Disease

D. Pareyson, M. Shy, F. Taroni, 1999, Annals of the New York Academy of Sciences.

Spinal and bulbar muscular atrophy and Charcot–Marie–Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient

C. Gellera, V. Scaioli, D. Pareyson, 2015, Neuromuscular Disorders.

No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype

C. Gellera, M. Pennuto, D. Pareyson, 2016, European journal of neurology.

Balance control in Sensory Neuron Disease

Marco Schieppati, Davide Pareyson, Antonio Nardone, 2007, Clinical Neurophysiology.

Clinical spectrum and frequency of Charcot–Marie–Tooth disease in Italy: Data from the National CMT Registry

L. Santoro, A. Quattrone, L. Padua, 2023, European journal of neurology.

Spinal cord lesion due to epidural anesthesia

D. Pareyson, G. Lauria, L. Chiapparini, 2000, Neurological Sciences.

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

F. Baas, S. Züchner, G. Beecham, 2019, Journal of neuromuscular diseases.

Effectiveness of valproate for the treatment of manic-like behavior in X-linked adrenoleukodystrophy

G. Uziel, A. Giovagnoli, D. Pareyson, 2012, Neurological Sciences.

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants

Jun Yu Li, R. Finkel, D. Herrmann, 2023, Brain : a journal of neurology.

Deletion of exons 11–17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease

G. Finocchiaro, G. Uziel, D. Pareyson, 2000, Journal of Neurology.

Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene

S. di Donato, B. Castellotti, M. Pandolfo, 1997, Neurology.

Case 38-2001: paraneoplastic encephalomyelitis and sensory ganglioneuropathy.

D. Pareyson, G. Lauria, A. Sghirlanzoni, 2002, The New England journal of medicine.

Spinal epidural abscess complicating tuberculous spondylitis

L. D'Incerti, D. Pareyson, M. Savoiardo, 1995, The Italian Journal of Neurological Sciences.

Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients

C. Gellera, V. Scaioli, D. Pareyson, 2023, Journal of Neurology.

Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.

D. Pareyson, A. Salmaggi, C. Mariotti, 2008 .

Lack of on-going adaptations in the soleus muscle activity during walking in patients affected by large-fiber neuropathy.

Michael J Grey, Thomas Sinkjaer, Marco Schieppati, 2005, Journal of neurophysiology.

Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease

R. Finkel, S. Garnett, D. Herrmann, 2023, Neurology.

Is overwork weakness relevant in Charcot–Marie–Tooth disease?

D. Radice, L. Santoro, A. Quattrone, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Treadmill training in patients affected by Charcot–Marie–Tooth neuropathy: results of a multicenter, prospective, randomized, single‐blind, controlled study

N. Smania, L. Marinelli, L. Padua, 2019, European journal of neurology.

Progressive brachial plexus enlargement in hereditary transthyretin amyloidosis

F. Salvi, C. Rapezzi, L. Padua, 2021, Journal of Neurology.

Magnetic resonance neurography and diffusion tensor imaging of the sciatic nerve in hereditary transthyretin amyloidosis polyneuropathy

D. Pareyson, C. Briani, M. Cacciavillani, 2023, Journal of Neurology.

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

E. Lamantea, D. Pareyson, D. Ghezzi, 2015, Neurology.

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Dana M. Bis-Brewer, R. Finkel, F. Muntoni, 2020, Nature Genetics.

Axonal Charcot-Marie-Tooth disease

D. Pareyson, 2007, Neurology.

Impact of Vutrisiran on Quality of Life and Physical Function in Patients with Hereditary Transthyretin-Mediated Amyloidosis with Polyneuropathy

Karla P. Zepeda, Hansie M Mathelier, J. Felius, 2023, Neurology and Therapy.

Neurogenic muscle hypertrophy. Report of two cases.

V. Scaioli, D. Pareyson, L. Morandi, 1989, Journal of neurology.